Objectives To evaluate the impact of placental anastomoses on the intrauterine growth of monochorionic (MC) twins. Methods A prospective study was conducted in a group of 53 MC twins. Intrapartally ...umbilical cords were clamped to identify placental sides corresponding to each twin. The postnatal dye injection technique was administered to evaluate vascular anastomoses, their number and type and visualize placental territory sharing patterns. Data from digital analysis were correlated with obstetrical follow-up. Results Vascular anastomoses were revealed in 88.7% of cases. Arteriovenous (AV) anastomoses occurred in 75.4% and arterioarterial (AA) in 71.1% while venovenous (VV) in 26.4%. In the subgroup of MC twins without placental anastomoses, significantly higher birthweight difference and discordance were revealed when compared to MC twins without anastomoses (382.0 vs. 22 g; P = 0.03 and 49.14% vs. 16.02%; P = 0.03). On the other hand, in subgroups of MC twins with at least one AA anastomosis, twins' birthweights were similar (p = ns) despite significantly higher placental territory sharing discordance (30.44% vs. 15.81%; P = 0.31). Conclusions Vascular anastomoses have a major impact on the intrauterine growth of MC twins. In certain cases, they may cause specific complications; however, in general, they regulate intertwin blood exchange and may compensate unequal placental territory.
Congenital diaphragmatic hernia (CDH) represents a developmental anomaly that profoundly impacts the embryonic development of both the respiratory and cardiovascular systems. Understanding the ...influences of developmental defects, their origins, and clinical consequences is of paramount importance for further research and the advancement of therapeutic strategies for this condition. In recent years, groundbreaking studies in the fields of metabolomics and genomics have significantly expanded our knowledge regarding the pathogenic mechanisms of CDH. These investigations introduce novel diagnostic and therapeutic avenues. CDH implies a scarcity of available information within this domain. Consequently, a comprehensive literature review has been undertaken to synthesize existing data, providing invaluable insights into this rare disease. Improved comprehension of the molecular underpinnings of CDH has the potential to refine diagnostic precision and therapeutic interventions, thus potentially enhancing clinical outcomes for CDH patients. The identification of potential biomarkers assumes paramount significance for early disease detection and risk assessment in CDH, facilitating prompt recognition and the implementation of appropriate interventions. The process of translating research findings into clinical practice is significantly facilitated by an exhaustive literature review. It serves as a pivotal step, enabling the integration of novel, more effective diagnostic and therapeutic modalities into the management of CDH patients.
•Lung hypoplasia and pulmonary hypertension constitute the hallmark features of CDH.•MiRNAs may play a role in the pathogenesis of pulmonary vascular dysfunction in CDH.•MiRNAs may be possible early prenatal biomarkers of CDH.•Novel research on specific miRNAs or mitochondria as potential therapeutic targets
Pulmonary hypoplasia is one of main causes of neonatal mortality and morbidity in patients with congenital diaphragmatic hernia. With most cases diagnosed prenatally, the emphasis is put on ...prediction of the severity of this defect. Several attempts are made to reduce the mortality and provide optimal prenatal and postnatal care. Appropriate estimation of risk of pulmonary hypoplasia also provides an important inclusion criterion for prenatal intervention. The main tool used for the detection and prediction of pulmonary hypoplasia is ultrasound, with an increasing number of available formulas to estimate the risk of occurrence of this phenomenon and complication associated with it. For most of the formulas used in this measurement method, the main limitations are either gestational-age dependency or limited research. Other imaging methods used to assess the risk of pulmonary hypoplasia involve magnetic resonance imaging and vascular assessment of affected lungs. The limitation in these remains the limited accessibility. Currently, the most widely used indexes are observed-to-expected lungs-to-head ratio and presence of liver herniation. These are the 2 most commonly used measurement methods, as they are the basis for patient qualification for fetoscopic endoluminal tracheal occlusion. This article aims to review the evaluation of pulmonary hypoplasia or hypoplastic lung disease as an important determinant of clinical outcomes in infants with congenital diaphragmatic hernia. In this review, we emphasize the importance of early prenatal diagnosis of congenital diaphragmatic hernia and present a summary of different methods of prenatal risk assessment of lung hypoplasia in congenital diaphragmatic hernia.
Distinct miRNA expression patterns may reflect anomalies related to fetal congenital malformations such as spinal bifida (SB). The aim of this preliminary study was to determine the maternal miRNA ...expression profile of women carrying fetuses with SB. Therefore, six women carrying fetuses with SB and twenty women with euploid healthy fetuses were enrolled in this study. Using NanoString technology, we evaluated the expression level of 798 miRNAs in both plasma and amniotic fluid samples. A downregulation of miR-1253, miR-1290, miR-194-5p, miR-302d-3p, miR-3144-3p, miR-4536-5p, miR-548aa + miR-548t-3p, miR-548ar-5p, miR-548n, miR-590-5p, miR-612, miR-627-5p, miR-644a, and miR-122-5p, and an upregulation of miR-320e, let-7b-5p, miR-23a-3p, miR-873-3p, and miR-30d-5p were identified in maternal amniotic fluid samples in SB when compared to the control group. The target genes of these miRNAs play a predominant role in regulating the synthesis of several biological compounds related to signaling pathways such as those regulating the pluripotency of stem cells. Moreover, the maternal plasma expression of miR-320e was increased in pregnancies with SB, and this marker could serve as a valuable non-invasive screening tool. Our results highlight the SB-specific miRNA signature and the differentially expressed miRNAs that may be involved in SB pathogenesis. Our findings emphasize the role of miRNA as a predictive factor that could potentially be useful in prenatal genetic screening for SB.
Intrahepatic cholestasis during pregnancy is associated with a higher risk of prenatal and maternal complications. There are several new publications and guidelines on the detection and thresholds of ...intrahepatic cholestasis during pregnancy. However, the genetic background of this disease has rarely been investigated. This is a comprehensive review of the roles of genes in intrahepatic cholestasis during pregnancy.
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